G12E (p.Gly12Glu) variant of RARA (Retinoic acid receptor alpha)
G12E (p.Gly12Glu) in RARA (Retinoic acid receptor alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- cosmic curated COSV54197
- ESP rs137929765
- ExAC rs137929765
- TOPMed rs137929765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.42
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available